Detection of duplications or deletions of the PMP22 gene using real-time quantit

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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct 10;22(5):537-540.

Detection of duplications or deletions of the PMP22 gene using real-

time quantitative PCR

Zhang F, Tang B, Shen Y, Zhao G, Xia K, Zhao Y, Chen B, Zhang C, Pan

Q, Cai F, Liu X, Luo W, Zhang R, Guo P.

Department of Neurology, Xiangya Hospital, Central South University,

Changsha, Hunan, 410008 P. R. China.

OBJECTIVE: To detect the duplication or deletion of peripheral myelin

protein 22(PMP22) gene in Chinese patients with Charcot-Marie-Tooth

disease(CMT) or hereditary neuropathy with liability to pressure

palsies(HNPP) using real-time quantitative polymerase chain reaction.

METHODS: Duplications or deletions of PMP22 gene were detected in 113

CMT cases, 4 HNPP cases and 50 normal controls by using real-time

quantitative PCR.

RESULTS: Thirty-six of 113 CMT cases had the PMP22 duplication, 4

HNPP cases had the PMP22 deletion. No duplication or deletion was

found in 50 normal controls.

CONCLUSION: The PMP22 duplication rate in Chinese patients with CMT

is 31.9%(36/113). PMP22 deletion is the common cause of HNPP.